title: Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Okumiya
authors.forename: O
authors.initials: O
authors.lastname: Kawamura
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: R
authors.initials: R
authors.lastname: Kase
authors.forename: S
authors.initials: S
authors.lastname: Ishii
authors.forename: S
authors.initials: S
authors.lastname: Kamei
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D015971:Gene Expression Regulation, Enzymologic; D006579:Heterozygote; D006801:Humans; D008297:Male; D008715:Methionine; D020125:Mutation, Missense; D017354:Point Mutation; D014633:Valine; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism
chemical_list: D004247:DNA; D008715:Methionine; D000519:alpha-Galactosidase; D014633:Valine